ClinVar Miner

List of variants in gene ATP2A1 reported as pathogenic for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln) rs750195772 0.00005
NM_004320.6(ATP2A1):c.1717C>T (p.Arg573Ter) rs371058445 0.00003
NM_004320.6(ATP2A1):c.2371C>T (p.Gln791Ter) rs895911431 0.00003
NM_004320.6(ATP2A1):c.2862+1G>A rs755227074 0.00002
NM_004320.6(ATP2A1):c.490C>T (p.Arg164Ter) rs1024976181 0.00002
NM_004320.6(ATP2A1):c.1184+1G>A rs551660089 0.00001
NM_004320.6(ATP2A1):c.1287G>A (p.Glu429=) rs200596448 0.00001
NM_004320.6(ATP2A1):c.1491T>G (p.Tyr497Ter) rs1409892710 0.00001
NM_004320.6(ATP2A1):c.150G>A (p.Trp50Ter) rs756940046 0.00001
NM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter) rs121918114 0.00001
NM_004320.6(ATP2A1):c.2262C>G (p.Tyr754Ter) rs752371826 0.00001
NM_004320.6(ATP2A1):c.2758C>T (p.Gln920Ter) rs897301304 0.00001
NM_004320.6(ATP2A1):c.592C>T (p.Arg198Ter) rs121918113 0.00001
NM_004320.6(ATP2A1):c.704T>A (p.Ile235Asn) rs569683468 0.00001
NM_004320.6(ATP2A1):c.706C>T (p.Arg236Ter) rs745337023 0.00001
NC_000016.10:g.(?_28878661)_(28904215_?)del
NC_000016.10:g.(?_28878662)_(28904215_?)del
NC_000016.10:g.(?_28887179)_(28888963_?)del
NC_000016.9:g.(?_28900098)_(28900284_?)del
NM_004320.6(ATP2A1):c.1086dup (p.Val363fs)
NM_004320.6(ATP2A1):c.1465C>T (p.Arg489Ter)
NM_004320.6(ATP2A1):c.1553_1554del (p.Pro518fs)
NM_004320.6(ATP2A1):c.1575dup (p.Asn526Ter)
NM_004320.6(ATP2A1):c.1672_1673dup (p.Leu559fs) rs1433893346
NM_004320.6(ATP2A1):c.1712del (p.Pro571fs)
NM_004320.6(ATP2A1):c.1712dup (p.Lys572fs)
NM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs) rs1421005631
NM_004320.6(ATP2A1):c.178del (p.Leu60fs) rs2152196826
NM_004320.6(ATP2A1):c.1912C>T (p.Arg638Ter)
NM_004320.6(ATP2A1):c.1966C>T (p.Arg656Ter) rs559067146
NM_004320.6(ATP2A1):c.200T>G (p.Leu67Arg) rs2152196866
NM_004320.6(ATP2A1):c.2011C>T (p.Arg671Ter) rs1555516994
NM_004320.6(ATP2A1):c.2056_2057del (p.Lys686fs) rs2152213646
NM_004320.6(ATP2A1):c.219+1G>C rs1963393226
NM_004320.6(ATP2A1):c.2311G>T (p.Glu771Ter) rs972494690
NM_004320.6(ATP2A1):c.2366C>T (p.Pro789Leu) rs121918115
NM_004320.6(ATP2A1):c.2464del (p.Arg822fs) rs751365374
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter) rs368234110
NM_004320.6(ATP2A1):c.2574C>G (p.Tyr858Ter) rs368234110
NM_004320.6(ATP2A1):c.2615_2618del (p.His872fs) rs1964119065
NM_004320.6(ATP2A1):c.2664_2665del (p.Cys888_Glu889delinsTer)
NM_004320.6(ATP2A1):c.2944G>A (p.Glu982Lys) rs538702357
NM_004320.6(ATP2A1):c.440del (p.Pro147fs) rs748241465
NM_004320.6(ATP2A1):c.57_60del (p.Ser19fs) rs770239154
NM_004320.6(ATP2A1):c.592del (p.Arg198fs) rs1187948767
NM_004320.6(ATP2A1):c.610A>T (p.Lys204Ter)
NM_004320.6(ATP2A1):c.787del (p.Val263fs)
NM_004320.6(ATP2A1):c.888dup (p.Lys297Ter) rs759847914
NM_004320.6(ATP2A1):c.902_903insSVAelement
NM_004320.6(ATP2A1):c.909_920delinsACGGCATA (p.Val304fs) rs1555515558

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